Publications by authors named "Ingrid Scheffer"

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Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry.
Elise Brimble, Kathryn G Reyes, Kopika Kuhathaas, Orrin Devinsky, Maura R Z Ruzhnikov, Xilma R Ortiz-Gonzalez, Ingrid Scheffer, Nadia Bahi-Buisson, Heather Olson,

Orphanet J Rare Dis· June 2023

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Final analysis from an open-label extension study of fenfluramine for the treatment of seizures in Lennox-Gastaut syndrome: long-term impact on patients and caregivers.
Kelly G Knupp, Ingrid E Scheffer, An-Sofie Schoonjans, Joseph Sullivan, Lieven Lagae

Epilepsy Behav· December 2025

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Pharmacological and dietary treatments for developmental stuttering: A systematic review.
Sarah E Horton, Elana J Forbes, Ingrid E Scheffer, Sheena Reilly, Daisy A Shepherd

Neurosci Biobehav Rev· December 2025

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Cognitive stagnation and executive function deficits in young children with SCN1A+ Dravet syndrome: Detailed characterization of onset, progression, and impact in the ENVISION natural history study.
Joseph Sullivan, M Scott Perry, Ingrid E Scheffer, James Wheless, Susana Boronat

Epilepsia· November 2025

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Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy.
Annie T G Chiu, Mark F Bennett, Harshini Thiyagarajah, Amy L Schneider, Sian M W Macdonald, Ingrid E Scheffer

Ann Neurol· November 2025

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Novel, complex configurations of the repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy.
Mark F Bennett, Mark A Corbett, Thessa Kroes, Laura Canafoglia, Karen L Oliver, Ingrid E Scheffer

Brain Commun· November 2025

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Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.
Katrine M Johannesen, Khaing Phyu Aung, Vivian Wy Liao, Nathan L Absalom, Han C Chua, Ingrid E Scheffer

J Clin Invest· November 2025

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Identification of an episignature for the MEF2C-associated syndrome.
Ananília Silva, Sadegheh Haghshenas, Liselot van der Laan, Michael A Levy, Raissa Relator, Ingrid E Scheffer

Eur J Hum Genet· November 2025

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Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.
Breana Galea, Joshua Reid, Samuel Gooley, Tom Witkowski, Tara Lane, Ingrid E Scheffer

medRxiv· November 2025

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Is there really evidence for neurodegeneration in Dravet syndrome? Commentary on the publication by Selvarajah et al.
Sanjay M Sisodiya, Simona Balestrini, Samuel F Berkovic, Kailash P Bhatia, Lisa M Clayton, Ingrid E Scheffer

Epilepsia· October 2025

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SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.
Maggie M K Wong, Rosalie A Kampen, Ruth O Braden, Gökberk Alagöz, Michael S Hildebrand, Ingrid E Scheffer

Nat Commun· October 2025

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Bexicaserin for the treatment of seizures in developmental and epileptic encephalopathies: A phase 1b/2a trial (PACIFIC).
Dennis J Dlugos, Ingrid E Scheffer, Jacqueline A French, David G Vossler, Chad Orevillo

Epilepsia· October 2025

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Serial correlation between saliva and blood beta-hydroxybutyrate levels in children commencing the ketogenic diet for epilepsy.
Neha Kaul, Jing Duan, Dong Cui, Michael Erlichster, Zhibin Chen, Ingrid E Scheffer

Epilepsia· September 2025

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The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.
Sarah M Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A Kamel, Ingrid E Scheffer

Ann Neurol· September 2025

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-Related Developmental and Epileptic Encephalopathy: Expanding the Clinical Spectrum and Deciphering the Genotype-Phenotype.
Kelley Gao, Lisa G Riley, Jacques Raubenheimer, Karen L Oliver, Alexander D Wykes, Ingrid Scheffer

Neurology· September 2025

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Systematic analysis of snRNA genes reveals frequent variants in dominant and recessive developmental and epileptic encephalopathies.
Elsa Leitão, Amandine Santini, Benjamin Cogne, Myriam Essid, Maria Athanasiadou, Ingrid E Scheffer

medRxiv· September 2025

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Atenolol rescues premature mortality in genetic mouse models of sudden unexpected death in epilepsy.
Ming S Soh, Amanda Hu, Alibek Kuanyshbek, Erlina S Mohamed Syazwan, Hian M Lee, Ingrid E Scheffer

Epilepsia· September 2025

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Development and Adaptive Function in Individuals With -Related Disorders.
Beatrice Southby Goad, Jill Rodda, Meagan Allen, Daniel Bamborschke, Isabella Overmars, Ingrid Scheffer

Neurology· August 2025

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SUDEP risk is influenced by longevity genomics: a polygenic risk score study.
Helena Martins, James D Mills, Susanna Pagni, Medine I Gulcebi, Angeliki Vakrinou, Ingrid E Scheffer

EBioMedicine· August 2025

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Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants.
Neblina Sikta, Samuel Gooley, Timothy E Green, Olivia Hoeper, Tom Witkowski, Ingrid E Scheffer

Hum Mol Genet· July 2025

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Phenotypic Spectrum in Individuals With Pathogenic Loss- and Gain-of-Function Variants.
Alessandra Rossi, Susan X N Lin, Nathan L Absalom, Sebastian Ortiz-De la Rosa, Vivian W Y Liao, Ingrid E Scheffer

Neurology· July 2025

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Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs.
Sara Bizzotto, Maya Talukdar, Edward A Stronge, Rosita B Ramirez, Yingxi Yang, Ingrid E Scheffer

Proc Natl Acad Sci U S A· July 2025

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Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data.
Erandee Robertson, Bronwyn E Grinton, Karen L Oliver, Liam G Fearnley, Michael S Hildebrand, Ingrid E Scheffer

NAR Genom Bioinform· June 2025

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Understanding speech and language in KIF1A-associated neurological disorder.
Lottie D Morison, Adam P Vogel, John Christodoulou, Wendy A Gold, Dylan Verden, Ingrid E Scheffer

Eur J Hum Genet· May 2025

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Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.
Matthew J Welland, K D Ahlquist, Paul De Fazio, Christina Austin-Tse, Lynn Pais, Ingrid E Scheffer

medRxiv· May 2025

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Exploring physiological beta-hydroxybutyrate level in children treated with the classical ketogenic diet for drug-resistant epilepsy.
Xiaoying Qiao, Zimeng Ye, Jialun Wen, Sufang Lin, Dezhi Cao, Ingrid E Scheffer

Acta Epileptol· February 2025

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